Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.99900638A>C | CA341330459 | AGL | c.3365A>C (p.Asn1122Thr) n.3576A>C c.3317A>C (p.Asn1106Thr) c.3314A>C (p.Asn1105Thr) c.1625A>C (p.Asn542Thr) | |
1 | g.99900638A>G | CA341330450 | AGL | c.3365A>G (p.Asn1122Ser) n.3576A>G c.3317A>G (p.Asn1106Ser) c.3314A>G (p.Asn1105Ser) c.1625A>G (p.Asn542Ser) | gnomAD v4 |
1 | g.99900638A>T | CA341330453 | AGL | c.3365A>T (p.Asn1122Ile) n.3576A>T c.3317A>T (p.Asn1106Ile) c.3314A>T (p.Asn1105Ile) c.1625A>T (p.Asn542Ile) | |
1 | g.99900639T>A | CA341330463 | AGL | c.3366T>A (p.Asn1122Lys) n.3577T>A c.3318T>A (p.Asn1106Lys) c.3315T>A (p.Asn1105Lys) c.1626T>A (p.Asn542Lys) | |
1 | g.99900639T>C | CA419314753 | AGL | c.3366T>C (p.Asn1122=) n.3577T>C c.3318T>C (p.Asn1106=) c.3315T>C (p.Asn1105=) c.1626T>C (p.Asn542=) | |
1 | g.99900639T>G | CA341330466 | AGL | c.3366T>G (p.Asn1122Lys) n.3577T>G c.3318T>G (p.Asn1106Lys) c.3315T>G (p.Asn1105Lys) c.1626T>G (p.Asn542Lys) | |
1 | g.99900640A= | CA1183937236 | AGL | c.3367A= (p.Ile1123=) n.3578A= c.3319A= (p.Ile1107=) c.3316A= (p.Ile1106=) c.1627A= (p.Ile543=) | |
1 | g.99900640A>C | CA341330471 | AGL | c.3367A>C (p.Ile1123Leu) n.3578A>C c.3319A>C (p.Ile1107Leu) c.3316A>C (p.Ile1106Leu) c.1627A>C (p.Ile543Leu) | |
1 | g.99900640A>G | CA967071 | AGL | c.3367A>G (p.Ile1123Val) n.3578A>G c.3319A>G (p.Ile1107Val) c.3316A>G (p.Ile1106Val) c.1627A>G (p.Ile543Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99900640A>T | CA341330478 | AGL | c.3367A>T (p.Ile1123Phe) n.3578A>T c.3319A>T (p.Ile1107Phe) c.3316A>T (p.Ile1106Phe) c.1627A>T (p.Ile543Phe) | |
1 | g.99900641T>A | CA341330486 | AGL | c.3368T>A (p.Ile1123Asn) n.3579T>A c.3320T>A (p.Ile1107Asn) c.3317T>A (p.Ile1106Asn) c.1628T>A (p.Ile543Asn) | |
1 | g.99900641T>C | CA341330490 | AGL | c.3368T>C (p.Ile1123Thr) n.3579T>C c.3320T>C (p.Ile1107Thr) c.3317T>C (p.Ile1106Thr) c.1628T>C (p.Ile543Thr) | |
1 | g.99900641T>G | CA341330493 | AGL | c.3368T>G (p.Ile1123Ser) n.3579T>G c.3320T>G (p.Ile1107Ser) c.3317T>G (p.Ile1106Ser) c.1628T>G (p.Ile543Ser) | |
1 | g.99900642T>A | CA419314754 | AGL | c.3369T>A (p.Ile1123=) n.3580T>A c.3321T>A (p.Ile1107=) c.3318T>A (p.Ile1106=) c.1629T>A (p.Ile543=) | |
1 | g.99900642T>C | CA419314755 | AGL | c.3369T>C (p.Ile1123=) n.3580T>C c.3321T>C (p.Ile1107=) c.3318T>C (p.Ile1106=) c.1629T>C (p.Ile543=) | |
1 | g.99900642T>G | CA341330498 | AGL | c.3369T>G (p.Ile1123Met) n.3580T>G c.3321T>G (p.Ile1107Met) c.3318T>G (p.Ile1106Met) c.1629T>G (p.Ile543Met) | |
1 | g.99900643A>C | CA341330509 | AGL | c.3370A>C (p.Ile1124Leu) n.3581A>C c.3322A>C (p.Ile1108Leu) c.3319A>C (p.Ile1107Leu) c.1630A>C (p.Ile544Leu) | |
1 | g.99900643A>G | CA341330510 | AGL | c.3370A>G (p.Ile1124Val) n.3581A>G c.3322A>G (p.Ile1108Val) c.3319A>G (p.Ile1107Val) c.1630A>G (p.Ile544Val) | |
1 | g.99900643A>T | CA341330515 | AGL | c.3370A>T (p.Ile1124Phe) n.3581A>T c.3322A>T (p.Ile1108Phe) c.3319A>T (p.Ile1107Phe) c.1630A>T (p.Ile544Phe) | |
1 | g.99900644T>A | CA341330527 | AGL | c.3371T>A (p.Ile1124Asn) n.3582T>A c.3323T>A (p.Ile1108Asn) c.3320T>A (p.Ile1107Asn) c.1631T>A (p.Ile544Asn) | |
1 | g.99900644T>C | CA341330525 | AGL | c.3371T>C (p.Ile1124Thr) n.3582T>C c.3323T>C (p.Ile1108Thr) c.3320T>C (p.Ile1107Thr) c.1631T>C (p.Ile544Thr) | ClinVar dbSNP gnomAD v4 |
1 | g.99900644T>G | CA341330518 | AGL | c.3371T>G (p.Ile1124Ser) n.3582T>G c.3323T>G (p.Ile1108Ser) c.3320T>G (p.Ile1107Ser) c.1631T>G (p.Ile544Ser) | dbSNP |
1 | g.99900645T>A | CA419314756 | AGL | c.3372T>A (p.Ile1124=) n.3583T>A c.3324T>A (p.Ile1108=) c.3321T>A (p.Ile1107=) c.1632T>A (p.Ile544=) | |
1 | g.99900645T>C | CA419314757 | AGL | c.3372T>C (p.Ile1124=) n.3583T>C c.3324T>C (p.Ile1108=) c.3321T>C (p.Ile1107=) c.1632T>C (p.Ile544=) | |
1 | g.99900645T>G | CA341330531 | AGL | c.3372T>G (p.Ile1124Met) n.3583T>G c.3324T>G (p.Ile1108Met) c.3321T>G (p.Ile1107Met) c.1632T>G (p.Ile544Met) | dbSNP gnomAD v4 |
1 | g.99900645T= | CA1183937237 | AGL | c.3372T= (p.Ile1124=) n.3583T= c.3324T= (p.Ile1108=) c.3321T= (p.Ile1107=) c.1632T= (p.Ile544=) | |
1 | g.99900646T>A | CA341330535 | AGL | c.3373T>A (p.Leu1125Ile) n.3584T>A c.3325T>A (p.Leu1109Ile) c.3322T>A (p.Leu1108Ile) c.1633T>A (p.Leu545Ile) | |
1 | g.99900646T>C | CA419314758 | AGL | c.3373T>C (p.Leu1125=) n.3584T>C c.3325T>C (p.Leu1109=) c.3322T>C (p.Leu1108=) c.1633T>C (p.Leu545=) | |
1 | g.99900646T>G | CA341330540 | AGL | c.3373T>G (p.Leu1125Val) n.3584T>G c.3325T>G (p.Leu1109Val) c.3322T>G (p.Leu1108Val) c.1633T>G (p.Leu545Val) | |
1 | g.99900647T>A | CA341330544 | AGL | c.3374T>A (p.Leu1125Ter) n.3585T>A c.3326T>A (p.Leu1109Ter) c.3323T>A (p.Leu1108Ter) c.1634T>A (p.Leu545Ter) | |
1 | g.99900647T>C | CA341330561 | AGL | c.3374T>C (p.Leu1125Ser) n.3585T>C c.3326T>C (p.Leu1109Ser) c.3323T>C (p.Leu1108Ser) c.1634T>C (p.Leu545Ser) | |
1 | g.99900647T>G | CA341330564 | AGL | c.3374T>G (p.Leu1125Ter) n.3585T>G c.3326T>G (p.Leu1109Ter) c.3323T>G (p.Leu1108Ter) c.1634T>G (p.Leu545Ter) | ClinVar dbSNP |
1 | g.99900648A= | CA1183937238 | AGL | c.3375A= (p.Leu1125=) n.3586A= c.3327A= (p.Leu1109=) c.3324A= (p.Leu1108=) c.1635A= (p.Leu545=) | |
1 | g.99900648A>C | CA341330568 | AGL | c.3375A>C (p.Leu1125Phe) n.3586A>C c.3327A>C (p.Leu1109Phe) c.3324A>C (p.Leu1108Phe) c.1635A>C (p.Leu545Phe) | |
1 | g.99900648A>G | CA967072 | AGL | c.3375A>G (p.Leu1125=) n.3586A>G c.3327A>G (p.Leu1109=) c.3324A>G (p.Leu1108=) c.1635A>G (p.Leu545=) | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.99900648A>T | CA341330567 | AGL | c.3375A>T (p.Leu1125Phe) n.3586A>T c.3327A>T (p.Leu1109Phe) c.3324A>T (p.Leu1108Phe) c.1635A>T (p.Leu545Phe) | |
1 | g.99900649G>A | CA341330569 | AGL | c.3376G>A (p.Ala1126Thr) n.3587G>A c.3328G>A (p.Ala1110Thr) c.3325G>A (p.Ala1109Thr) c.1636G>A (p.Ala546Thr) | dbSNP gnomAD v4 |
1 | g.99900649G>C | CA341330570 | AGL | c.3376G>C (p.Ala1126Pro) n.3587G>C c.3328G>C (p.Ala1110Pro) c.3325G>C (p.Ala1109Pro) c.1636G>C (p.Ala546Pro) | |
1 | g.99900649G= | CA1183937239 | AGL | c.3376G= (p.Ala1126=) n.3587G= c.3328G= (p.Ala1110=) c.3325G= (p.Ala1109=) c.1636G= (p.Ala546=) | |
1 | g.99900649G>T | CA341330571 | AGL | c.3376G>T (p.Ala1126Ser) n.3587G>T c.3328G>T (p.Ala1110Ser) c.3325G>T (p.Ala1109Ser) c.1636G>T (p.Ala546Ser) | |
1 | g.99900650C>A | CA341330574 | AGL | c.3377C>A (p.Ala1126Glu) n.3588C>A c.3329C>A (p.Ala1110Glu) c.3326C>A (p.Ala1109Glu) c.1637C>A (p.Ala546Glu) | |
1 | g.99900650C>G | CA341330582 | AGL | c.3377C>G (p.Ala1126Gly) n.3588C>G c.3329C>G (p.Ala1110Gly) c.3326C>G (p.Ala1109Gly) c.1637C>G (p.Ala546Gly) | |
1 | g.99900650C>T | CA341330585 | AGL | c.3377C>T (p.Ala1126Val) n.3588C>T c.3329C>T (p.Ala1110Val) c.3326C>T (p.Ala1109Val) c.1637C>T (p.Ala546Val) | |
1 | g.99900651A= | CA1183937240 | AGL | c.3378A= (p.Ala1126=) n.3589A= c.3330A= (p.Ala1110=) c.3327A= (p.Ala1109=) c.1638A= (p.Ala546=) | |
1 | g.99900651A>C | CA419314759 | AGL | c.3378A>C (p.Ala1126=) n.3589A>C c.3330A>C (p.Ala1110=) c.3327A>C (p.Ala1109=) c.1638A>C (p.Ala546=) | |
1 | g.99900651A>G | CA419314760 | AGL | c.3378A>G (p.Ala1126=) n.3589A>G c.3330A>G (p.Ala1110=) c.3327A>G (p.Ala1109=) c.1638A>G (p.Ala546=) | ClinVar |
1 | g.99900651A>T | CA419314761 | AGL | c.3378A>T (p.Ala1126=) n.3589A>T c.3330A>T (p.Ala1110=) c.3327A>T (p.Ala1109=) c.1638A>T (p.Ala546=) | |
1 | g.99900652T>A | CA341330601 | AGL | c.3379T>A (p.Phe1127Ile) n.3590T>A c.3331T>A (p.Phe1111Ile) c.3328T>A (p.Phe1110Ile) c.1639T>A (p.Phe547Ile) | |
1 | g.99900652T>C | CA341330605 | AGL | c.3379T>C (p.Phe1127Leu) n.3590T>C c.3331T>C (p.Phe1111Leu) c.3328T>C (p.Phe1110Leu) c.1639T>C (p.Phe547Leu) | |
1 | g.99900652T>G | CA341330604 | AGL | c.3379T>G (p.Phe1127Val) n.3590T>G c.3331T>G (p.Phe1111Val) c.3328T>G (p.Phe1110Val) c.1639T>G (p.Phe547Val) | |
1 | g.99900654dup | CA741013034 | AGL | c.3381dup (p.Ala1128CysfsTer11) n.3592dup c.3333dup (p.Ala1112CysfsTer11) c.3330dup (p.Ala1111CysfsTer11) c.1641dup (p.Ala548CysfsTer11) | dbSNP |
1 | g.99900653T>A | CA341330607 | AGL | c.3380T>A (p.Phe1127Tyr) n.3591T>A c.3332T>A (p.Phe1111Tyr) c.3329T>A (p.Phe1110Tyr) c.1640T>A (p.Phe547Tyr) | gnomAD v4 |
1 | g.99900653T>C | CA341330610 | AGL | c.3380T>C (p.Phe1127Ser) n.3591T>C c.3332T>C (p.Phe1111Ser) c.3329T>C (p.Phe1110Ser) c.1640T>C (p.Phe547Ser) | |
1 | g.99900653T>G | CA341330624 | AGL | c.3380T>G (p.Phe1127Cys) n.3591T>G c.3332T>G (p.Phe1111Cys) c.3329T>G (p.Phe1110Cys) c.1640T>G (p.Phe547Cys) | |
1 | g.99900654T>A | CA341330631 | AGL | c.3381T>A (p.Phe1127Leu) n.3592T>A c.3333T>A (p.Phe1111Leu) c.3330T>A (p.Phe1110Leu) c.1641T>A (p.Phe547Leu) | |
1 | g.99900654T>C | CA419314762 | AGL | c.3381T>C (p.Phe1127=) n.3592T>C c.3333T>C (p.Phe1111=) c.3330T>C (p.Phe1110=) c.1641T>C (p.Phe547=) | ClinVar |
1 | g.99900654T>G | CA341330633 | AGL | c.3381T>G (p.Phe1127Leu) n.3592T>G c.3333T>G (p.Phe1111Leu) c.3330T>G (p.Phe1110Leu) c.1641T>G (p.Phe547Leu) | |
1 | g.99900655G>A | CA341330637 | AGL | c.3382G>A (p.Ala1128Thr) n.3593G>A c.3334G>A (p.Ala1112Thr) c.3331G>A (p.Ala1111Thr) c.1642G>A (p.Ala548Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.99900655G>C | CA341330640 | AGL | c.3382G>C (p.Ala1128Pro) n.3593G>C c.3334G>C (p.Ala1112Pro) c.3331G>C (p.Ala1111Pro) c.1642G>C (p.Ala548Pro) | |
1 | g.99900655G= | CA1183937241 | AGL | c.3382G= (p.Ala1128=) n.3593G= c.3334G= (p.Ala1112=) c.3331G= (p.Ala1111=) c.1642G= (p.Ala548=) | |
1 | g.99900655G>T | CA341330644 | AGL | c.3382G>T (p.Ala1128Ser) n.3593G>T c.3334G>T (p.Ala1112Ser) c.3331G>T (p.Ala1111Ser) c.1642G>T (p.Ala548Ser) | |
1 | g.99900656C>A | CA341330646 | AGL | c.3383C>A (p.Ala1128Glu) n.3594C>A c.3335C>A (p.Ala1112Glu) c.3332C>A (p.Ala1111Glu) c.1643C>A (p.Ala548Glu) | |
1 | g.99900656C= | CA1183937242 | AGL | c.3383C= (p.Ala1128=) n.3594C= c.3335C= (p.Ala1112=) c.3332C= (p.Ala1111=) c.1643C= (p.Ala548=) | |
1 | g.99900656C>G | CA341330648 | AGL | c.3383C>G (p.Ala1128Gly) n.3594C>G c.3335C>G (p.Ala1112Gly) c.3332C>G (p.Ala1111Gly) c.1643C>G (p.Ala548Gly) | |
1 | g.99900656C>T | CA341330658 | AGL | c.3383C>T (p.Ala1128Val) n.3594C>T c.3335C>T (p.Ala1112Val) c.3332C>T (p.Ala1111Val) c.1643C>T (p.Ala548Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.99900657G>A | CA967073 | AGL | c.3384G>A (p.Ala1128=) n.3595G>A c.3336G>A (p.Ala1112=) c.3333G>A (p.Ala1111=) c.1644G>A (p.Ala548=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99900657G>C | CA419314763 | AGL | c.3384G>C (p.Ala1128=) n.3595G>C c.3336G>C (p.Ala1112=) c.3333G>C (p.Ala1111=) c.1644G>C (p.Ala548=) | |
1 | g.99900657G= | CA1142299726 | AGL | c.3384G= (p.Ala1128=) n.3595G= c.3336G= (p.Ala1112=) c.3333G= (p.Ala1111=) c.1644G= (p.Ala548=) | |
1 | g.99900657G>T | CA419314764 | AGL | c.3384G>T (p.Ala1128=) n.3595G>T c.3336G>T (p.Ala1112=) c.3333G>T (p.Ala1111=) c.1644G>T (p.Ala548=) | |
1 | g.99900658G>A | CA341330665 | AGL | c.3385G>A (p.Gly1129Ser) n.3596G>A c.3337G>A (p.Gly1113Ser) c.3334G>A (p.Gly1112Ser) c.1645G>A (p.Gly549Ser) | gnomAD v4 |
1 | g.99900658G>C | CA341330669 | AGL | c.3385G>C (p.Gly1129Arg) n.3596G>C c.3337G>C (p.Gly1113Arg) c.3334G>C (p.Gly1112Arg) c.1645G>C (p.Gly549Arg) | |
1 | g.99900658G= | CA1183937243 | AGL | c.3385G= (p.Gly1129=) n.3596G= c.3337G= (p.Gly1113=) c.3334G= (p.Gly1112=) c.1645G= (p.Gly549=) | |
1 | g.99900658G>T | CA967074 | AGL | c.3385G>T (p.Gly1129Cys) n.3596G>T c.3337G>T (p.Gly1113Cys) c.3334G>T (p.Gly1112Cys) c.1645G>T (p.Gly549Cys) | dbSNP ExAC |
1 | g.99900659G>A | CA341330682 | AGL | c.3386G>A (p.Gly1129Asp) n.3597G>A c.3338G>A (p.Gly1113Asp) c.3335G>A (p.Gly1112Asp) c.1646G>A (p.Gly549Asp) | ClinVar dbSNP gnomAD v4 |
1 | g.99900659G>C | CA341330699 | AGL | c.3386G>C (p.Gly1129Ala) n.3597G>C c.3338G>C (p.Gly1113Ala) c.3335G>C (p.Gly1112Ala) c.1646G>C (p.Gly549Ala) | |
1 | g.99900659G= | CA1183937244 | AGL | c.3386G= (p.Gly1129=) n.3597G= c.3338G= (p.Gly1113=) c.3335G= (p.Gly1112=) c.1646G= (p.Gly549=) | |
1 | g.99900659G>T | CA967075 | AGL | c.3386G>T (p.Gly1129Val) n.3597G>T c.3338G>T (p.Gly1113Val) c.3335G>T (p.Gly1112Val) c.1646G>T (p.Gly549Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99900660T>A | CA419314765 | AGL | c.3387T>A (p.Gly1129=) n.3598T>A c.3339T>A (p.Gly1113=) c.3336T>A (p.Gly1112=) c.1647T>A (p.Gly549=) | |
1 | g.99900660T>C | CA419314767 | AGL | c.3387T>C (p.Gly1129=) n.3598T>C c.3339T>C (p.Gly1113=) c.3336T>C (p.Gly1112=) c.1647T>C (p.Gly549=) | |
1 | g.99900660T>G | CA419314766 | AGL | c.3387T>G (p.Gly1129=) n.3598T>G c.3339T>G (p.Gly1113=) c.3336T>G (p.Gly1112=) c.1647T>G (p.Gly549=) | |
1 | g.99900661A= | CA1183937245 | AGL | c.3388A= (p.Thr1130=) n.3599A= c.3340A= (p.Thr1114=) c.3337A= (p.Thr1113=) c.1648A= (p.Thr550=) | |
1 | g.99900661A>C | CA341330704 | AGL | c.3388A>C (p.Thr1130Pro) n.3599A>C c.3340A>C (p.Thr1114Pro) c.3337A>C (p.Thr1113Pro) c.1648A>C (p.Thr550Pro) | |
1 | g.99900661A>G | CA341330708 | AGL | c.3388A>G (p.Thr1130Ala) n.3599A>G c.3340A>G (p.Thr1114Ala) c.3337A>G (p.Thr1113Ala) c.1648A>G (p.Thr550Ala) | dbSNP gnomAD v4 |
1 | g.99900661A>T | CA341330730 | AGL | c.3388A>T (p.Thr1130Ser) n.3599A>T c.3340A>T (p.Thr1114Ser) c.3337A>T (p.Thr1113Ser) c.1648A>T (p.Thr550Ser) | |
1 | g.99900662C>A | CA341330734 | AGL | c.3389C>A (p.Thr1130Asn) n.3600C>A c.3341C>A (p.Thr1114Asn) c.3338C>A (p.Thr1113Asn) c.1649C>A (p.Thr550Asn) | |
1 | g.99900662C= | CA1183937246 | AGL | c.3389C= (p.Thr1130=) n.3600C= c.3341C= (p.Thr1114=) c.3338C= (p.Thr1113=) c.1649C= (p.Thr550=) | |
1 | g.99900662C>G | CA341330740 | AGL | c.3389C>G (p.Thr1130Ser) n.3600C>G c.3341C>G (p.Thr1114Ser) c.3338C>G (p.Thr1113Ser) c.1649C>G (p.Thr550Ser) | gnomAD v4 |
1 | g.99900662C>T | CA341330746 | AGL | c.3389C>T (p.Thr1130Ile) n.3600C>T c.3341C>T (p.Thr1114Ile) c.3338C>T (p.Thr1113Ile) c.1649C>T (p.Thr550Ile) | dbSNP gnomAD v4 |
1 | g.99900663C>A | CA419314768 | AGL | c.3390C>A (p.Thr1130=) n.3601C>A c.3342C>A (p.Thr1114=) c.3339C>A (p.Thr1113=) c.1650C>A (p.Thr550=) | |
1 | g.99900663C= | CA1183937247 | AGL | c.3390C= (p.Thr1130=) n.3601C= c.3342C= (p.Thr1114=) c.3339C= (p.Thr1113=) c.1650C= (p.Thr550=) | |
1 | g.99900663C>G | CA419314769 | AGL | c.3390C>G (p.Thr1130=) n.3601C>G c.3342C>G (p.Thr1114=) c.3339C>G (p.Thr1113=) c.1650C>G (p.Thr550=) | |
1 | g.99900663C>T | CA419314770 | AGL | c.3390C>T (p.Thr1130=) n.3601C>T c.3342C>T (p.Thr1114=) c.3339C>T (p.Thr1113=) c.1650C>T (p.Thr550=) | dbSNP |
1 | g.99900664C>A | CA341330752 | AGL | c.3391C>A (p.Leu1131Met) n.3602C>A c.3343C>A (p.Leu1115Met) c.3340C>A (p.Leu1114Met) c.1651C>A (p.Leu551Met) | |
1 | g.99900664C>G | CA341330760 | AGL | c.3391C>G (p.Leu1131Val) n.3602C>G c.3343C>G (p.Leu1115Val) c.3340C>G (p.Leu1114Val) c.1651C>G (p.Leu551Val) | gnomAD v4 |
1 | g.99900664C>T | CA419314771 | AGL | c.3391C>T (p.Leu1131=) n.3602C>T c.3343C>T (p.Leu1115=) c.3340C>T (p.Leu1114=) c.1651C>T (p.Leu551=) | |
1 | g.99900665T>A | CA341330761 | AGL | c.3392T>A (p.Leu1131Gln) n.3603T>A c.3344T>A (p.Leu1115Gln) c.3341T>A (p.Leu1114Gln) c.1652T>A (p.Leu551Gln) | |
1 | g.99900665T>C | CA341330762 | AGL | c.3392T>C (p.Leu1131Pro) n.3603T>C c.3344T>C (p.Leu1115Pro) c.3341T>C (p.Leu1114Pro) c.1652T>C (p.Leu551Pro) | |
1 | g.99900665T>G | CA341330763 | AGL | c.3392T>G (p.Leu1131Arg) n.3603T>G c.3344T>G (p.Leu1115Arg) c.3341T>G (p.Leu1114Arg) c.1652T>G (p.Leu551Arg) | |
1 | g.99900666G>A | CA419314772 | AGL | c.3393G>A (p.Leu1131=) n.3604G>A c.3345G>A (p.Leu1115=) c.3342G>A (p.Leu1114=) c.1653G>A (p.Leu551=) | ClinVar dbSNP |
1 | g.99900666G>C | CA419314773 | AGL | c.3393G>C (p.Leu1131=) n.3604G>C c.3345G>C (p.Leu1115=) c.3342G>C (p.Leu1114=) c.1653G>C (p.Leu551=) | |
1 | g.99900666G>T | CA419314774 | AGL | c.3393G>T (p.Leu1131=) n.3604G>T c.3345G>T (p.Leu1115=) c.3342G>T (p.Leu1114=) c.1653G>T (p.Leu551=) | |
1 | g.99900667A>C | CA419314775 | AGL | c.3394A>C (p.Arg1132=) n.3605A>C c.3346A>C (p.Arg1116=) c.3343A>C (p.Arg1115=) c.1654A>C (p.Arg552=) | |
1 | g.99900667A>G | CA341330780 | AGL | c.3394A>G (p.Arg1132Gly) n.3605A>G c.3346A>G (p.Arg1116Gly) c.3343A>G (p.Arg1115Gly) c.1654A>G (p.Arg552Gly) | |
1 | g.99900667A>T | CA341330766 | AGL | c.3394A>T (p.Arg1132Trp) n.3605A>T c.3346A>T (p.Arg1116Trp) c.3343A>T (p.Arg1115Trp) c.1654A>T (p.Arg552Trp) | |
1 | g.99900668G>A | CA341330785 | AGL | c.3395G>A (p.Arg1132Lys) n.3606G>A c.3347G>A (p.Arg1116Lys) c.3344G>A (p.Arg1115Lys) c.1655G>A (p.Arg552Lys) | ClinVar dbSNP gnomAD v4 |
1 | g.99900668G>C | CA341330790 | AGL | c.3395G>C (p.Arg1132Thr) n.3606G>C c.3347G>C (p.Arg1116Thr) c.3344G>C (p.Arg1115Thr) c.1655G>C (p.Arg552Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99900668G= | CA1183937248 | AGL | c.3395G= (p.Arg1132=) n.3606G= c.3347G= (p.Arg1116=) c.3344G= (p.Arg1115=) c.1655G= (p.Arg552=) | |
1 | g.99900668G>T | CA341330797 | AGL | c.3395G>T (p.Arg1132Met) n.3606G>T c.3347G>T (p.Arg1116Met) c.3344G>T (p.Arg1115Met) c.1655G>T (p.Arg552Met) | |
1 | g.99900669G>A | CA419314776 | AGL | c.3396G>A (p.Arg1132=) n.3607G>A c.3348G>A (p.Arg1116=) c.3345G>A (p.Arg1115=) c.1656G>A (p.Arg552=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99900669G>C | CA341330804 | AGL | c.3396G>C (p.Arg1132Ser) n.3607G>C c.3348G>C (p.Arg1116Ser) c.3345G>C (p.Arg1115Ser) c.1656G>C (p.Arg552Ser) | |
1 | g.99900669G= | CA1183937249 | AGL | c.3396G= (p.Arg1132=) n.3607G= c.3348G= (p.Arg1116=) c.3345G= (p.Arg1115=) c.1656G= (p.Arg552=) | |
1 | g.99900669G>T | CA341330807 | AGL | c.3396G>T (p.Arg1132Ser) n.3607G>T c.3348G>T (p.Arg1116Ser) c.3345G>T (p.Arg1115Ser) c.1656G>T (p.Arg552Ser) | gnomAD v4 |
1 | g.99900670C>A | CA341330811 | AGL | c.3397C>A (p.His1133Asn) n.3608C>A c.3349C>A (p.His1117Asn) c.3346C>A (p.His1116Asn) c.1657C>A (p.His553Asn) | |
1 | g.99900670C>G | CA341330812 | AGL | c.3397C>G (p.His1133Asp) n.3608C>G c.3349C>G (p.His1117Asp) c.3346C>G (p.His1116Asp) c.1657C>G (p.His553Asp) | |
1 | g.99900670C>T | CA341330813 | AGL | c.3397C>T (p.His1133Tyr) n.3608C>T c.3349C>T (p.His1117Tyr) c.3346C>T (p.His1116Tyr) c.1657C>T (p.His553Tyr) | |
1 | g.99900671A>C | CA341330814 | AGL | c.3398A>C (p.His1133Pro) n.3609A>C c.3350A>C (p.His1117Pro) c.3347A>C (p.His1116Pro) c.1658A>C (p.His553Pro) | |
1 | g.99900671A>G | CA341330815 | AGL | c.3398A>G (p.His1133Arg) n.3609A>G c.3350A>G (p.His1117Arg) c.3347A>G (p.His1116Arg) c.1658A>G (p.His553Arg) | gnomAD v4 |
1 | g.99900671A>T | CA341330816 | AGL | c.3398A>T (p.His1133Leu) n.3609A>T c.3350A>T (p.His1117Leu) c.3347A>T (p.His1116Leu) c.1658A>T (p.His553Leu) | |
1 | g.99900672T>A | CA341330821 | AGL | c.3399T>A (p.His1133Gln) n.3610T>A c.3351T>A (p.His1117Gln) c.3348T>A (p.His1116Gln) c.1659T>A (p.His553Gln) | |
1 | g.99900672T>C | CA967076 | AGL | c.3399T>C (p.His1133=) n.3610T>C c.3351T>C (p.His1117=) c.3348T>C (p.His1116=) c.1659T>C (p.His553=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99900672T>G | CA341330817 | AGL | c.3399T>G (p.His1133Gln) n.3610T>G c.3351T>G (p.His1117Gln) c.3348T>G (p.His1116Gln) c.1659T>G (p.His553Gln) | |
1 | g.99900672T= | CA1183937250 | AGL | c.3399T= (p.His1133=) n.3610T= c.3351T= (p.His1117=) c.3348T= (p.His1116=) c.1659T= (p.His553=) | |
1 | g.99900672_99900673delinsTG | CA1183937251 | AGL | c.3399_3400delinsTG (p.His1133=) n.3610_3611delinsTG c.3351_3352delinsTG (p.His1117=) c.3348_3349delinsTG (p.His1116=) c.1659_1660delinsTG (p.His553=) | |
1 | g.99900673G>A | CA27539244 | AGL | c.3400G>A (p.Gly1134Ser) n.3611G>A c.3352G>A (p.Gly1118Ser) c.3349G>A (p.Gly1117Ser) c.1660G>A (p.Gly554Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99900673G>C | CA341330831 | AGL | c.3400G>C (p.Gly1134Arg) n.3611G>C c.3352G>C (p.Gly1118Arg) c.3349G>C (p.Gly1117Arg) c.1660G>C (p.Gly554Arg) | |
1 | g.99900673G= | CA1142126919 | AGL | c.3400G= (p.Gly1134=) n.3611G= c.3352G= (p.Gly1118=) c.3349G= (p.Gly1117=) c.1660G= (p.Gly554=) | |
1 | g.99900673G>T | CA341330841 | AGL | c.3400G>T (p.Gly1134Cys) n.3611G>T c.3352G>T (p.Gly1118Cys) c.3349G>T (p.Gly1117Cys) c.1660G>T (p.Gly554Cys) | |
1 | g.99900674del | CA524878454 | AGL | c.3401del (p.Gly1134ValfsTer?) n.3612del c.3353del (p.Gly1118ValfsTer?) c.3350del (p.Gly1117ValfsTer?) c.1661del (p.Gly554ValfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99900674G>A | CA341330846 | AGL | c.3401G>A (p.Gly1134Asp) n.3612G>A c.3353G>A (p.Gly1118Asp) c.3350G>A (p.Gly1117Asp) c.1661G>A (p.Gly554Asp) | gnomAD v4 |
1 | g.99900674G>C | CA341330847 | AGL | c.3401G>C (p.Gly1134Ala) n.3612G>C c.3353G>C (p.Gly1118Ala) c.3350G>C (p.Gly1117Ala) c.1661G>C (p.Gly554Ala) | |
1 | g.99900674G>T | CA341330848 | AGL | c.3401G>T (p.Gly1134Val) n.3612G>T c.3353G>T (p.Gly1118Val) c.3350G>T (p.Gly1117Val) c.1661G>T (p.Gly554Val) | gnomAD v4 |
1 | g.99900675T>A | CA419314587 | AGL | c.3402T>A (p.Gly1134=) n.3613T>A c.3354T>A (p.Gly1118=) c.3351T>A (p.Gly1117=) c.1662T>A (p.Gly554=) | |
1 | g.99900675T>C | CA419314588 | AGL | c.3402T>C (p.Gly1134=) n.3613T>C c.3354T>C (p.Gly1118=) c.3351T>C (p.Gly1117=) c.1662T>C (p.Gly554=) | |
1 | g.99900675T>G | CA419314589 | AGL | c.3402T>G (p.Gly1134=) n.3613T>G c.3354T>G (p.Gly1118=) c.3351T>G (p.Gly1117=) c.1662T>G (p.Gly554=) | |
1 | g.99900676C>A | CA341330850 | AGL | c.3403C>A (p.Leu1135Ile) n.3614C>A c.3355C>A (p.Leu1119Ile) c.3352C>A (p.Leu1118Ile) c.1663C>A (p.Leu555Ile) | |
1 | g.99900676C= | CA1183937252 | AGL | c.3403C= (p.Leu1135=) n.3614C= c.3355C= (p.Leu1119=) c.3352C= (p.Leu1118=) c.1663C= (p.Leu555=) | |
1 | g.99900676C>G | CA341330853 | AGL | c.3403C>G (p.Leu1135Val) n.3614C>G c.3355C>G (p.Leu1119Val) c.3352C>G (p.Leu1118Val) c.1663C>G (p.Leu555Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99900676C>T | CA341330863 | AGL | c.3403C>T (p.Leu1135Phe) n.3614C>T c.3355C>T (p.Leu1119Phe) c.3352C>T (p.Leu1118Phe) c.1663C>T (p.Leu555Phe) | |
1 | g.99900677T>A | CA341330867 | AGL | c.3404T>A (p.Leu1135His) n.3615T>A c.3356T>A (p.Leu1119His) c.3353T>A (p.Leu1118His) c.1664T>A (p.Leu555His) | |
1 | g.99900677T>C | CA341330869 | AGL | c.3404T>C (p.Leu1135Pro) n.3615T>C c.3356T>C (p.Leu1119Pro) c.3353T>C (p.Leu1118Pro) c.1664T>C (p.Leu555Pro) | |
1 | g.99900677T>G | CA341330871 | AGL | c.3404T>G (p.Leu1135Arg) n.3615T>G c.3356T>G (p.Leu1119Arg) c.3353T>G (p.Leu1118Arg) c.1664T>G (p.Leu555Arg) | |
1 | g.99900678C>A | CA419314590 | AGL | c.3405C>A (p.Leu1135=) n.3616C>A c.3357C>A (p.Leu1119=) c.3354C>A (p.Leu1118=) c.1665C>A (p.Leu555=) | COSMIC COSMIC |
1 | g.99900678C= | CA1183937253 | AGL | c.3405C= (p.Leu1135=) n.3616C= c.3357C= (p.Leu1119=) c.3354C= (p.Leu1118=) c.1665C= (p.Leu555=) | |
1 | g.99900678C>G | CA419314591 | AGL | c.3405C>G (p.Leu1135=) n.3616C>G c.3357C>G (p.Leu1119=) c.3354C>G (p.Leu1118=) c.1665C>G (p.Leu555=) | |
1 | g.99900678C>T | CA419314592 | AGL | c.3405C>T (p.Leu1135=) n.3616C>T c.3357C>T (p.Leu1119=) c.3354C>T (p.Leu1118=) c.1665C>T (p.Leu555=) | ClinVar dbSNP |
1 | g.99900679A>C | CA341330877 | AGL | c.3406A>C (p.Ile1136Leu) n.3617A>C c.3358A>C (p.Ile1120Leu) c.3355A>C (p.Ile1119Leu) c.1666A>C (p.Ile556Leu) | |
1 | g.99900679A>G | CA341330887 | AGL | c.3406A>G (p.Ile1136Val) n.3617A>G c.3358A>G (p.Ile1120Val) c.3355A>G (p.Ile1119Val) c.1666A>G (p.Ile556Val) | gnomAD v4 |
1 | g.99900679A>T | CA341330873 | AGL | c.3406A>T (p.Ile1136Phe) n.3617A>T c.3358A>T (p.Ile1120Phe) c.3355A>T (p.Ile1119Phe) c.1666A>T (p.Ile556Phe) | |
1 | g.99900680T>A | CA341330893 | AGL | c.3407T>A (p.Ile1136Asn) n.3618T>A c.3359T>A (p.Ile1120Asn) c.3356T>A (p.Ile1119Asn) c.1667T>A (p.Ile556Asn) | |
1 | g.99900680T>C | CA341330894 | AGL | c.3407T>C (p.Ile1136Thr) n.3618T>C c.3359T>C (p.Ile1120Thr) c.3356T>C (p.Ile1119Thr) c.1667T>C (p.Ile556Thr) | |
1 | g.99900680T>G | CA341330897 | AGL | c.3407T>G (p.Ile1136Ser) n.3618T>G c.3359T>G (p.Ile1120Ser) c.3356T>G (p.Ile1119Ser) c.1667T>G (p.Ile556Ser) | dbSNP gnomAD v4 |
1 | g.99900680T= | CA1183937254 | AGL | c.3407T= (p.Ile1136=) n.3618T= c.3359T= (p.Ile1120=) c.3356T= (p.Ile1119=) c.1667T= (p.Ile556=) | |
1 | g.99900681T>A | CA419314593 | AGL | c.3408T>A (p.Ile1136=) n.3619T>A c.3360T>A (p.Ile1120=) c.3357T>A (p.Ile1119=) c.1668T>A (p.Ile556=) | |
1 | g.99900681T>C | CA419314594 | AGL | c.3408T>C (p.Ile1136=) n.3619T>C c.3360T>C (p.Ile1120=) c.3357T>C (p.Ile1119=) c.1668T>C (p.Ile556=) | |
1 | g.99900681T>G | CA341330901 | AGL | c.3408T>G (p.Ile1136Met) n.3619T>G c.3360T>G (p.Ile1120Met) c.3357T>G (p.Ile1119Met) c.1668T>G (p.Ile556Met) | |
1 | g.99900682C>A | CA341330906 | AGL | c.3409C>A (p.Pro1137Thr) n.3620C>A c.3361C>A (p.Pro1121Thr) c.3358C>A (p.Pro1120Thr) c.1669C>A (p.Pro557Thr) | |
1 | g.99900682C>G | CA341330905 | AGL | c.3409C>G (p.Pro1137Ala) n.3620C>G c.3361C>G (p.Pro1121Ala) c.3358C>G (p.Pro1120Ala) c.1669C>G (p.Pro557Ala) | gnomAD v4 |
1 | g.99900682C>T | CA341330904 | AGL | c.3409C>T (p.Pro1137Ser) n.3620C>T c.3361C>T (p.Pro1121Ser) c.3358C>T (p.Pro1120Ser) c.1669C>T (p.Pro557Ser) | gnomAD v4 COSMIC COSMIC |
1 | g.99900683C>A | CA341330907 | AGL | c.3410C>A (p.Pro1137His) n.3621C>A c.3362C>A (p.Pro1121His) c.3359C>A (p.Pro1120His) c.1670C>A (p.Pro557His) | |
1 | g.99900683C>G | CA341330908 | AGL | c.3410C>G (p.Pro1137Arg) n.3621C>G c.3362C>G (p.Pro1121Arg) c.3359C>G (p.Pro1120Arg) c.1670C>G (p.Pro557Arg) | |
1 | g.99900683C>T | CA341330910 | AGL | c.3410C>T (p.Pro1137Leu) n.3621C>T c.3362C>T (p.Pro1121Leu) c.3359C>T (p.Pro1120Leu) c.1670C>T (p.Pro557Leu) | |
1 | g.99900684T>A | CA419314595 | AGL | c.3411T>A (p.Pro1137=) n.3622T>A c.3363T>A (p.Pro1121=) c.3360T>A (p.Pro1120=) c.1671T>A (p.Pro557=) | ClinVar dbSNP gnomAD v4 |
1 | g.99900684T>C | CA419314596 | AGL | c.3411T>C (p.Pro1137=) n.3622T>C c.3363T>C (p.Pro1121=) c.3360T>C (p.Pro1120=) c.1671T>C (p.Pro557=) | dbSNP gnomAD v2 |
1 | g.99900684T>G | CA419314597 | AGL | c.3411T>G (p.Pro1137=) n.3622T>G c.3363T>G (p.Pro1121=) c.3360T>G (p.Pro1120=) c.1671T>G (p.Pro557=) | |
1 | g.99900684T= | CA1183937255 | AGL | c.3411T= (p.Pro1137=) n.3622T= c.3363T= (p.Pro1121=) c.3360T= (p.Pro1120=) c.1671T= (p.Pro557=) | |
1 | g.99900685A= | CA1144108183 | AGL | c.3412A= (p.Asn1138=) n.3623A= c.3364A= (p.Asn1122=) c.3361A= (p.Asn1121=) c.1672A= (p.Asn558=) | |
1 | g.99900685A>C | CA341330912 | AGL | c.3412A>C (p.Asn1138His) n.3623A>C c.3364A>C (p.Asn1122His) c.3361A>C (p.Asn1121His) c.1672A>C (p.Asn558His) | |
1 | g.99900685A>G | CA27539249 | AGL | c.3412A>G (p.Asn1138Asp) n.3623A>G c.3364A>G (p.Asn1122Asp) c.3361A>G (p.Asn1121Asp) c.1672A>G (p.Asn558Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99900685A>T | CA341330914 | AGL | c.3412A>T (p.Asn1138Tyr) n.3623A>T c.3364A>T (p.Asn1122Tyr) c.3361A>T (p.Asn1121Tyr) c.1672A>T (p.Asn558Tyr) | |
1 | g.99900686A>C | CA341330961 | AGL | c.3413A>C (p.Asn1138Thr) n.3624A>C c.3365A>C (p.Asn1122Thr) c.3362A>C (p.Asn1121Thr) c.1673A>C (p.Asn558Thr) | |
1 | g.99900686A>G | CA341330954 | AGL | c.3413A>G (p.Asn1138Ser) n.3624A>G c.3365A>G (p.Asn1122Ser) c.3362A>G (p.Asn1121Ser) c.1673A>G (p.Asn558Ser) | |
1 | g.99900686A>T | CA341330925 | AGL | c.3413A>T (p.Asn1138Ile) n.3624A>T c.3365A>T (p.Asn1122Ile) c.3362A>T (p.Asn1121Ile) c.1673A>T (p.Asn558Ile) | |
1 | g.99900687T>A | CA341330965 | AGL | c.3414T>A (p.Asn1138Lys) n.3625T>A c.3366T>A (p.Asn1122Lys) c.3363T>A (p.Asn1121Lys) c.1674T>A (p.Asn558Lys) | |
1 | g.99900687T>C | CA419314598 | AGL | c.3414T>C (p.Asn1138=) n.3625T>C c.3366T>C (p.Asn1122=) c.3363T>C (p.Asn1121=) c.1674T>C (p.Asn558=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.99900687T>G | CA341330972 | AGL | c.3414T>G (p.Asn1138Lys) n.3625T>G c.3366T>G (p.Asn1122Lys) c.3363T>G (p.Asn1121Lys) c.1674T>G (p.Asn558Lys) | |
1 | g.99900687T= | CA1183937256 | AGL | c.3414T= (p.Asn1138=) n.3625T= c.3366T= (p.Asn1122=) c.3363T= (p.Asn1121=) c.1674T= (p.Asn558=) | |
1 | g.99900688C>A | CA341330978 | AGL | c.3415C>A (p.Leu1139Ile) n.3626C>A c.3367C>A (p.Leu1123Ile) c.3364C>A (p.Leu1122Ile) c.1675C>A (p.Leu559Ile) | |
1 | g.99900688C>G | CA341330980 | AGL | c.3415C>G (p.Leu1139Val) n.3626C>G c.3367C>G (p.Leu1123Val) c.3364C>G (p.Leu1122Val) c.1675C>G (p.Leu559Val) | ClinVar |
1 | g.99900688C>T | CA419314599 | AGL | c.3415C>T (p.Leu1139=) n.3626C>T c.3367C>T (p.Leu1123=) c.3364C>T (p.Leu1122=) c.1675C>T (p.Leu559=) | |
1 | g.99900689T>A | CA341330982 | AGL | c.3416T>A (p.Leu1139Gln) n.3627T>A c.3368T>A (p.Leu1123Gln) c.3365T>A (p.Leu1122Gln) c.1676T>A (p.Leu559Gln) | |
1 | g.99900689T>C | CA341330986 | AGL | c.3416T>C (p.Leu1139Pro) n.3627T>C c.3368T>C (p.Leu1123Pro) c.3365T>C (p.Leu1122Pro) c.1676T>C (p.Leu559Pro) | dbSNP |
1 | g.99900689T>G | CA341330990 | AGL | c.3416T>G (p.Leu1139Arg) n.3627T>G c.3368T>G (p.Leu1123Arg) c.3365T>G (p.Leu1122Arg) c.1676T>G (p.Leu559Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.99900689T= | CA1183937257 | AGL | c.3416T= (p.Leu1139=) n.3627T= c.3368T= (p.Leu1123=) c.3365T= (p.Leu1122=) c.1676T= (p.Leu559=) | |
1 | g.99900690A>C | CA419314602 | AGL | c.3417A>C (p.Leu1139=) n.3628A>C c.3369A>C (p.Leu1123=) c.3366A>C (p.Leu1122=) c.1677A>C (p.Leu559=) | |
1 | g.99900690A>G | CA419314601 | AGL | c.3417A>G (p.Leu1139=) n.3628A>G c.3369A>G (p.Leu1123=) c.3366A>G (p.Leu1122=) c.1677A>G (p.Leu559=) | gnomAD v4 |
1 | g.99900690A>T | CA419314600 | AGL | c.3417A>T (p.Leu1139=) n.3628A>T c.3369A>T (p.Leu1123=) c.3366A>T (p.Leu1122=) c.1677A>T (p.Leu559=) | |
1 | g.99900691C>A | CA341331015 | AGL | c.3418C>A (p.Leu1140Met) n.3629C>A c.3370C>A (p.Leu1124Met) c.3367C>A (p.Leu1123Met) c.1678C>A (p.Leu560Met) | |
1 | g.99900691C= | CA1183937258 | AGL | c.3418C= (p.Leu1140=) n.3629C= c.3370C= (p.Leu1124=) c.3367C= (p.Leu1123=) c.1678C= (p.Leu560=) | |
1 | g.99900691C>G | CA341331010 | AGL | c.3418C>G (p.Leu1140Val) n.3629C>G c.3370C>G (p.Leu1124Val) c.3367C>G (p.Leu1123Val) c.1678C>G (p.Leu560Val) | |
1 | g.99900691C>T | CA419314603 | AGL | c.3418C>T (p.Leu1140=) n.3629C>T c.3370C>T (p.Leu1124=) c.3367C>T (p.Leu1123=) c.1678C>T (p.Leu560=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.99900692T>A | CA341331018 | AGL | c.3419T>A (p.Leu1140Gln) n.3630T>A c.3371T>A (p.Leu1124Gln) c.3368T>A (p.Leu1123Gln) c.1679T>A (p.Leu560Gln) | |
1 | g.99900692T>C | CA341331028 | AGL | c.3419T>C (p.Leu1140Pro) n.3630T>C c.3371T>C (p.Leu1124Pro) c.3368T>C (p.Leu1123Pro) c.1679T>C (p.Leu560Pro) | |
1 | g.99900692T>G | CA967077 | AGL | c.3419T>G (p.Leu1140Arg) n.3630T>G c.3371T>G (p.Leu1124Arg) c.3368T>G (p.Leu1123Arg) c.1679T>G (p.Leu560Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99900692T= | CA1147350733 | AGL | c.3419T= (p.Leu1140=) n.3630T= c.3371T= (p.Leu1124=) c.3368T= (p.Leu1123=) c.1679T= (p.Leu560=) | |
1 | g.99900693G>A | CA419314604 | AGL | c.3420G>A (p.Leu1140=) n.3631G>A c.3372G>A (p.Leu1124=) c.3369G>A (p.Leu1123=) c.1680G>A (p.Leu560=) | |
1 | g.99900693G>C | CA419314605 | AGL | c.3420G>C (p.Leu1140=) n.3631G>C c.3372G>C (p.Leu1124=) c.3369G>C (p.Leu1123=) c.1680G>C (p.Leu560=) | |
1 | g.99900693G>T | CA419314606 | AGL | c.3420G>T (p.Leu1140=) n.3631G>T c.3372G>T (p.Leu1124=) c.3369G>T (p.Leu1123=) c.1680G>T (p.Leu560=) | |
1 | g.99900695del | CA2646738327 | AGL | c.3422del (p.Gly1141ValfsTer?) n.3633del c.3374del (p.Gly1125ValfsTer?) c.3371del (p.Gly1124ValfsTer?) c.1682del (p.Gly561ValfsTer?) | gnomAD v4 |
1 | g.99900694G>A | CA341331035 | AGL | c.3421G>A (p.Gly1141Ser) n.3632G>A c.3373G>A (p.Gly1125Ser) c.3370G>A (p.Gly1124Ser) c.1681G>A (p.Gly561Ser) | gnomAD v4 |
1 | g.99900694G>C | CA341331036 | AGL | c.3421G>C (p.Gly1141Arg) n.3632G>C c.3373G>C (p.Gly1125Arg) c.3370G>C (p.Gly1124Arg) c.1681G>C (p.Gly561Arg) | |
1 | g.99900694G>T | CA341331037 | AGL | c.3421G>T (p.Gly1141Cys) n.3632G>T c.3373G>T (p.Gly1125Cys) c.3370G>T (p.Gly1124Cys) c.1681G>T (p.Gly561Cys) | |
1 | g.99900695G>A | CA341331040 | AGL | c.3422G>A (p.Gly1141Asp) n.3633G>A c.3374G>A (p.Gly1125Asp) c.3371G>A (p.Gly1124Asp) c.1682G>A (p.Gly561Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.99900695G>C | CA341331038 | AGL | c.3422G>C (p.Gly1141Ala) n.3633G>C c.3374G>C (p.Gly1125Ala) c.3371G>C (p.Gly1124Ala) c.1682G>C (p.Gly561Ala) | |
1 | g.99900695G= | CA1183937259 | AGL | c.3422G= (p.Gly1141=) n.3633G= c.3374G= (p.Gly1125=) c.3371G= (p.Gly1124=) c.1682G= (p.Gly561=) | |
1 | g.99900695G>T | CA341331039 | AGL | c.3422G>T (p.Gly1141Val) n.3633G>T c.3374G>T (p.Gly1125Val) c.3371G>T (p.Gly1124Val) c.1682G>T (p.Gly561Val) | |
1 | g.99900696_99900697del | CA2586967151 | AGL | c.3423_3424del (p.Glu1142ArgfsTer24) n.3634_3635del c.3375_3376del (p.Glu1126ArgfsTer24) c.3372_3373del (p.Glu1125ArgfsTer24) c.1683_1684del (p.Glu562ArgfsTer24) | |
1 | g.99900696T>A | CA419314607 | AGL | c.3423T>A (p.Gly1141=) n.3634T>A c.3375T>A (p.Gly1125=) c.3372T>A (p.Gly1124=) c.1683T>A (p.Gly561=) | |
1 | g.99900696T>C | CA419314609 | AGL | c.3423T>C (p.Gly1141=) n.3634T>C c.3375T>C (p.Gly1125=) c.3372T>C (p.Gly1124=) c.1683T>C (p.Gly561=) | |
1 | g.99900696T>G | CA419314608 | AGL | c.3423T>G (p.Gly1141=) n.3634T>G c.3375T>G (p.Gly1125=) c.3372T>G (p.Gly1124=) c.1683T>G (p.Gly561=) | |
1 | g.99900697G>A | CA341331046 | AGL | c.3424G>A (p.Glu1142Lys) n.3635G>A c.3376G>A (p.Glu1126Lys) c.3373G>A (p.Glu1125Lys) c.1684G>A (p.Glu562Lys) | |
1 | g.99900697G>C | CA341331058 | AGL | c.3424G>C (p.Glu1142Gln) n.3635G>C c.3376G>C (p.Glu1126Gln) c.3373G>C (p.Glu1125Gln) c.1684G>C (p.Glu562Gln) | |
1 | g.99900697G>T | CA341331060 | AGL | c.3424G>T (p.Glu1142Ter) n.3635G>T c.3376G>T (p.Glu1126Ter) c.3373G>T (p.Glu1125Ter) c.1684G>T (p.Glu562Ter) | |
1 | g.99900698A>C | CA341331062 | AGL | c.3425A>C (p.Glu1142Ala) n.3636A>C c.3377A>C (p.Glu1126Ala) c.3374A>C (p.Glu1125Ala) c.1685A>C (p.Glu562Ala) | |
1 | g.99900698A>G | CA341331066 | AGL | c.3425A>G (p.Glu1142Gly) n.3636A>G c.3377A>G (p.Glu1126Gly) c.3374A>G (p.Glu1125Gly) c.1685A>G (p.Glu562Gly) | |
1 | g.99900698A>T | CA341331068 | AGL | c.3425A>T (p.Glu1142Val) n.3636A>T c.3377A>T (p.Glu1126Val) c.3374A>T (p.Glu1125Val) c.1685A>T (p.Glu562Val) | |
1 | g.99900699A>C | CA341331083 | AGL | c.3426A>C (p.Glu1142Asp) n.3637A>C c.3378A>C (p.Glu1126Asp) c.3375A>C (p.Glu1125Asp) c.1686A>C (p.Glu562Asp) | |
1 | g.99900699A>G | CA419314610 | AGL | c.3426A>G (p.Glu1142=) n.3637A>G c.3378A>G (p.Glu1126=) c.3375A>G (p.Glu1125=) c.1686A>G (p.Glu562=) | |
1 | g.99900699A>T | CA341331080 | AGL | c.3426A>T (p.Glu1142Asp) n.3637A>T c.3378A>T (p.Glu1126Asp) c.3375A>T (p.Glu1125Asp) c.1686A>T (p.Glu562Asp) | |
1 | g.99900700G>A | CA341331084 | AGL | c.3427G>A (p.Gly1143Arg) n.3638G>A c.3379G>A (p.Gly1127Arg) c.3376G>A (p.Gly1126Arg) c.1687G>A (p.Gly563Arg) | |
1 | g.99900700G>C | CA341331085 | AGL | c.3427G>C (p.Gly1143Arg) n.3638G>C c.3379G>C (p.Gly1127Arg) c.3376G>C (p.Gly1126Arg) c.1687G>C (p.Gly563Arg) | gnomAD v4 |
1 | g.99900700G>T | CA341331087 | AGL | c.3427G>T (p.Gly1143Ter) n.3638G>T c.3379G>T (p.Gly1127Ter) c.3376G>T (p.Gly1126Ter) c.1687G>T (p.Gly563Ter) | |
1 | g.99900701G>A | CA341331090 | AGL | c.3428G>A (p.Gly1143Glu) n.3639G>A c.3380G>A (p.Gly1127Glu) c.3377G>A (p.Gly1126Glu) c.1688G>A (p.Gly563Glu) | |
1 | g.99900701G>C | CA341331092 | AGL | c.3428G>C (p.Gly1143Ala) n.3639G>C c.3380G>C (p.Gly1127Ala) c.3377G>C (p.Gly1126Ala) c.1688G>C (p.Gly563Ala) | |
1 | g.99900701G= | CA1183937260 | AGL | c.3428G= (p.Gly1143=) n.3639G= c.3380G= (p.Gly1127=) c.3377G= (p.Gly1126=) c.1688G= (p.Gly563=) | |
1 | g.99900701G>T | CA967078 | AGL | c.3428G>T (p.Gly1143Val) n.3639G>T c.3380G>T (p.Gly1127Val) c.3377G>T (p.Gly1126Val) c.1688G>T (p.Gly563Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99900702A>C | CA419314611 | AGL | c.3429A>C (p.Gly1143=) n.3640A>C c.3381A>C (p.Gly1127=) c.3378A>C (p.Gly1126=) c.1689A>C (p.Gly563=) | |
1 | g.99900702A>G | CA419314612 | AGL | c.3429A>G (p.Gly1143=) n.3640A>G c.3381A>G (p.Gly1127=) c.3378A>G (p.Gly1126=) c.1689A>G (p.Gly563=) | |
1 | g.99900702A>T | CA419314613 | AGL | c.3429A>T (p.Gly1143=) n.3640A>T c.3381A>T (p.Gly1127=) c.3378A>T (p.Gly1126=) c.1689A>T (p.Gly563=) | |
1 | g.99900703A= | CA1183937261 | AGL | c.3430A= (p.Ile1144=) n.3641A= c.3382A= (p.Ile1128=) c.3379A= (p.Ile1127=) c.1690A= (p.Ile564=) | |
1 | g.99900703A>C | CA341331101 | AGL | c.3430A>C (p.Ile1144Leu) n.3641A>C c.3382A>C (p.Ile1128Leu) c.3379A>C (p.Ile1127Leu) c.1690A>C (p.Ile564Leu) | |
1 | g.99900703A>G | CA341331118 | AGL | c.3430A>G (p.Ile1144Val) n.3641A>G c.3382A>G (p.Ile1128Val) c.3379A>G (p.Ile1127Val) c.1690A>G (p.Ile564Val) | dbSNP gnomAD v4 |
1 | g.99900703A>T | CA341331109 | AGL | c.3430A>T (p.Ile1144Phe) n.3641A>T c.3382A>T (p.Ile1128Phe) c.3379A>T (p.Ile1127Phe) c.1690A>T (p.Ile564Phe) | |
1 | g.99900704T>A | CA967079 | AGL | c.3431T>A (p.Ile1144Asn) n.3642T>A c.3383T>A (p.Ile1128Asn) c.3380T>A (p.Ile1127Asn) c.1691T>A (p.Ile564Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99900704T>C | CA27539282 | AGL | c.3431T>C (p.Ile1144Thr) n.3642T>C c.3383T>C (p.Ile1128Thr) c.3380T>C (p.Ile1127Thr) c.1691T>C (p.Ile564Thr) | ClinVar |
1 | g.99900704T>G | CA341331127 | AGL | c.3431T>G (p.Ile1144Ser) n.3642T>G c.3383T>G (p.Ile1128Ser) c.3380T>G (p.Ile1127Ser) c.1691T>G (p.Ile564Ser) | |
1 | g.99900704T= | CA1139921711 | AGL | c.3431T= (p.Ile1144=) n.3642T= c.3383T= (p.Ile1128=) c.3380T= (p.Ile1127=) c.1691T= (p.Ile564=) | |
1 | g.99900705T>A | CA419314614 | AGL | c.3432T>A (p.Ile1144=) n.3643T>A c.3384T>A (p.Ile1128=) c.3381T>A (p.Ile1127=) c.1692T>A (p.Ile564=) | |
1 | g.99900705T>C | CA419314615 | AGL | c.3432T>C (p.Ile1144=) n.3643T>C c.3384T>C (p.Ile1128=) c.3381T>C (p.Ile1127=) c.1692T>C (p.Ile564=) | |
1 | g.99900705T>G | CA341331139 | AGL | c.3432T>G (p.Ile1144Met) n.3643T>G c.3384T>G (p.Ile1128Met) c.3381T>G (p.Ile1127Met) c.1692T>G (p.Ile564Met) | |
1 | g.99900706T>A | CA341331146 | AGL | c.3433T>A (p.Tyr1145Asn) n.3644T>A c.3385T>A (p.Tyr1129Asn) c.3382T>A (p.Tyr1128Asn) c.1693T>A (p.Tyr565Asn) | |
1 | g.99900706T>C | CA341331152 | AGL | c.3433T>C (p.Tyr1145His) n.3644T>C c.3385T>C (p.Tyr1129His) c.3382T>C (p.Tyr1128His) c.1693T>C (p.Tyr565His) | |
1 | g.99900706T>G | CA341331159 | AGL | c.3433T>G (p.Tyr1145Asp) n.3644T>G c.3385T>G (p.Tyr1129Asp) c.3382T>G (p.Tyr1128Asp) c.1693T>G (p.Tyr565Asp) | |
1 | g.99900707_99900708del | CA2580063592 | AGL | c.3434_3435del (p.Tyr1145CysfsTer21) n.3645_3646del c.3386_3387del (p.Tyr1129CysfsTer21) c.3383_3384del (p.Tyr1128CysfsTer21) c.1694_1695del (p.Tyr565CysfsTer21) | ClinVar gnomAD v4 |
1 | g.99900707A>C | CA341331166 | AGL | c.3434A>C (p.Tyr1145Ser) n.3645A>C c.3386A>C (p.Tyr1129Ser) c.3383A>C (p.Tyr1128Ser) c.1694A>C (p.Tyr565Ser) | |
1 | g.99900707A>G | CA341331170 | AGL | c.3434A>G (p.Tyr1145Cys) n.3645A>G c.3386A>G (p.Tyr1129Cys) c.3383A>G (p.Tyr1128Cys) c.1694A>G (p.Tyr565Cys) | dbSNP |
1 | g.99900707A>T | CA341331174 | AGL | c.3434A>T (p.Tyr1145Phe) n.3645A>T c.3386A>T (p.Tyr1129Phe) c.3383A>T (p.Tyr1128Phe) c.1694A>T (p.Tyr565Phe) | |
1 | g.99900708T>A | CA341331179 | AGL | c.3435T>A (p.Tyr1145Ter) n.3646T>A c.3387T>A (p.Tyr1129Ter) c.3384T>A (p.Tyr1128Ter) c.1695T>A (p.Tyr565Ter) | |
1 | g.99900708T>C | CA419314616 | AGL | c.3435T>C (p.Tyr1145=) n.3646T>C c.3387T>C (p.Tyr1129=) c.3384T>C (p.Tyr1128=) c.1695T>C (p.Tyr565=) | |
1 | g.99900708T>G | CA341331191 | AGL | c.3435T>G (p.Tyr1145Ter) n.3646T>G c.3387T>G (p.Tyr1129Ter) c.3384T>G (p.Tyr1128Ter) c.1695T>G (p.Tyr565Ter) | |
1 | g.99900709G>A | CA967080 | AGL | c.3436G>A (p.Ala1146Thr) n.3647G>A c.3388G>A (p.Ala1130Thr) c.3385G>A (p.Ala1129Thr) c.1696G>A (p.Ala566Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99900709G>C | CA341331206 | AGL | c.3436G>C (p.Ala1146Pro) n.3647G>C c.3388G>C (p.Ala1130Pro) c.3385G>C (p.Ala1129Pro) c.1696G>C (p.Ala566Pro) | |
1 | g.99900709G= | CA1183937262 | AGL | c.3436G= (p.Ala1146=) n.3647G= c.3388G= (p.Ala1130=) c.3385G= (p.Ala1129=) c.1696G= (p.Ala566=) | |
1 | g.99900709G>T | CA341331194 | AGL | c.3436G>T (p.Ala1146Ser) n.3647G>T c.3388G>T (p.Ala1130Ser) c.3385G>T (p.Ala1129Ser) c.1696G>T (p.Ala566Ser) | |
1 | g.99900710C>A | CA341331210 | AGL | c.3437C>A (p.Ala1146Asp) n.3648C>A c.3389C>A (p.Ala1130Asp) c.3386C>A (p.Ala1129Asp) c.1697C>A (p.Ala566Asp) | gnomAD v4 |
1 | g.99900710C= | CA1183937263 | AGL | c.3437C= (p.Ala1146=) n.3648C= c.3389C= (p.Ala1130=) c.3386C= (p.Ala1129=) c.1697C= (p.Ala566=) | |
1 | g.99900710C>G | CA341331213 | AGL | c.3437C>G (p.Ala1146Gly) n.3648C>G c.3389C>G (p.Ala1130Gly) c.3386C>G (p.Ala1129Gly) c.1697C>G (p.Ala566Gly) | |
1 | g.99900710C>T | CA27539313 | AGL | c.3437C>T (p.Ala1146Val) n.3648C>T c.3389C>T (p.Ala1130Val) c.3386C>T (p.Ala1129Val) c.1697C>T (p.Ala566Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.99900711C>A | CA419314617 | AGL | c.3438C>A (p.Ala1146=) n.3649C>A c.3390C>A (p.Ala1130=) c.3387C>A (p.Ala1129=) c.1698C>A (p.Ala566=) | |
1 | g.99900711C>G | CA419314618 | AGL | c.3438C>G (p.Ala1146=) n.3649C>G c.3390C>G (p.Ala1130=) c.3387C>G (p.Ala1129=) c.1698C>G (p.Ala566=) | |
1 | g.99900711C>T | CA419314619 | AGL | c.3438C>T (p.Ala1146=) n.3649C>T c.3390C>T (p.Ala1130=) c.3387C>T (p.Ala1129=) c.1698C>T (p.Ala566=) | gnomAD v4 |
1 | g.99900712A= | CA1143538198 | AGL | c.3439A= (p.Arg1147=) n.3650A= c.3391A= (p.Arg1131=) c.3388A= (p.Arg1130=) c.1699A= (p.Arg567=) | |
1 | g.99900712A>C | CA419314620 | AGL | c.3439A>C (p.Arg1147=) n.3650A>C c.3391A>C (p.Arg1131=) c.3388A>C (p.Arg1130=) c.1699A>C (p.Arg567=) | |
1 | g.99900712A>G | CA114767 | AGL | c.3439A>G (p.Arg1147Gly) n.3650A>G c.3391A>G (p.Arg1131Gly) c.3388A>G (p.Arg1130Gly) c.1699A>G (p.Arg567Gly) | ClinVar dbSNP gnomAD v4 |
1 | g.99900712A>T | CA341331218 | AGL | c.3439A>T (p.Arg1147Ter) n.3650A>T c.3391A>T (p.Arg1131Ter) c.3388A>T (p.Arg1130Ter) c.1699A>T (p.Arg567Ter) | ClinVar dbSNP |
1 | g.99900713G>A | CA341331244 | AGL | c.3440G>A (p.Arg1147Lys) n.3651G>A c.3392G>A (p.Arg1131Lys) c.3389G>A (p.Arg1130Lys) c.1700G>A (p.Arg567Lys) | |
1 | g.99900713G>C | CA341331227 | AGL | c.3440G>C (p.Arg1147Thr) n.3651G>C c.3392G>C (p.Arg1131Thr) c.3389G>C (p.Arg1130Thr) c.1700G>C (p.Arg567Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99900713G= | CA1183937265 | AGL | c.3440G= (p.Arg1147=) n.3651G= c.3392G= (p.Arg1131=) c.3389G= (p.Arg1130=) c.1700G= (p.Arg567=) | |
1 | g.99900713G>T | CA341331239 | AGL | c.3440G>T (p.Arg1147Ile) n.3651G>T c.3392G>T (p.Arg1131Ile) c.3389G>T (p.Arg1130Ile) c.1700G>T (p.Arg567Ile) | |
1 | g.99900713_99900714delinsGA | CA1183937264 | AGL | c.3440_3441delinsGA (p.Arg1147=) n.3651_3652delinsGA c.3392_3393delinsGA (p.Arg1131=) c.3389_3390delinsGA (p.Arg1130=) c.1700_1701delinsGA (p.Arg567=) | |
1 | g.99900714del | CA1139656256 | AGL | c.3441del (p.Arg1147SerfsTer26) n.3652del c.3393del (p.Arg1131SerfsTer26) c.3390del (p.Arg1130SerfsTer26) c.1701del (p.Arg567SerfsTer26) | ClinVar dbSNP |
1 | g.99900714A>C | CA341331255 | AGL | c.3441A>C (p.Arg1147Ser) n.3652A>C c.3393A>C (p.Arg1131Ser) c.3390A>C (p.Arg1130Ser) c.1701A>C (p.Arg567Ser) | |
1 | g.99900714A>G | CA419314621 | AGL | c.3441A>G (p.Arg1147=) n.3652A>G c.3393A>G (p.Arg1131=) c.3390A>G (p.Arg1130=) c.1701A>G (p.Arg567=) | |
1 | g.99900714A>T | CA341331259 | AGL | c.3441A>T (p.Arg1147Ser) n.3652A>T c.3393A>T (p.Arg1131Ser) c.3390A>T (p.Arg1130Ser) c.1701A>T (p.Arg567Ser) | |
1 | g.99900715T>A | CA341331260 | AGL | c.3442T>A (p.Tyr1148Asn) n.3653T>A c.3394T>A (p.Tyr1132Asn) c.3391T>A (p.Tyr1131Asn) c.1702T>A (p.Tyr568Asn) | |
1 | g.99900715T>C | CA341331261 | AGL | c.3442T>C (p.Tyr1148His) n.3653T>C c.3394T>C (p.Tyr1132His) c.3391T>C (p.Tyr1131His) c.1702T>C (p.Tyr568His) | |
1 | g.99900715T>G | CA341331262 | AGL | c.3442T>G (p.Tyr1148Asp) n.3653T>G c.3394T>G (p.Tyr1132Asp) c.3391T>G (p.Tyr1131Asp) c.1702T>G (p.Tyr568Asp) | |
1 | g.99900715T= | CA1183937266 | AGL | c.3442T= (p.Tyr1148=) n.3653T= c.3394T= (p.Tyr1132=) c.3391T= (p.Tyr1131=) c.1702T= (p.Tyr568=) | |
1 | g.99900716A>C | CA341331283 | AGL | c.3443A>C (p.Tyr1148Ser) n.3654A>C c.3395A>C (p.Tyr1132Ser) c.3392A>C (p.Tyr1131Ser) c.1703A>C (p.Tyr568Ser) | |
1 | g.99900716A>G | CA341331266 | AGL | c.3443A>G (p.Tyr1148Cys) n.3654A>G c.3395A>G (p.Tyr1132Cys) c.3392A>G (p.Tyr1131Cys) c.1703A>G (p.Tyr568Cys) | ClinVar |
1 | g.99900716A>T | CA341331274 | AGL | c.3443A>T (p.Tyr1148Phe) n.3654A>T c.3395A>T (p.Tyr1132Phe) c.3392A>T (p.Tyr1131Phe) c.1703A>T (p.Tyr568Phe) | |
1 | g.99900716dup | CA16040844 | AGL | c.3443dup (p.Tyr1148Ter) n.3654dup c.3395dup (p.Tyr1132Ter) c.3392dup (p.Tyr1131Ter) c.1703dup (p.Tyr568Ter) | ClinVar dbSNP |
1 | g.99900717C>A | CA967081 | AGL | c.3444C>A (p.Tyr1148Ter) n.3655C>A c.3396C>A (p.Tyr1132Ter) c.3393C>A (p.Tyr1131Ter) c.1704C>A (p.Tyr568Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99900717C= | CA1183937267 | AGL | c.3444C= (p.Tyr1148=) n.3655C= c.3396C= (p.Tyr1132=) c.3393C= (p.Tyr1131=) c.1704C= (p.Tyr568=) | |
1 | g.99900717C>G | CA274158 | AGL | c.3444C>G (p.Tyr1148Ter) n.3655C>G c.3396C>G (p.Tyr1132Ter) c.3393C>G (p.Tyr1131Ter) c.1704C>G (p.Tyr568Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.99900717C>T | CA419314622 | AGL | c.3444C>T (p.Tyr1148=) n.3655C>T c.3396C>T (p.Tyr1132=) c.3393C>T (p.Tyr1131=) c.1704C>T (p.Tyr568=) | ClinVar dbSNP |
1 | g.99900718A>C | CA341331302 | AGL | c.3445A>C (p.Asn1149His) n.3656A>C c.3397A>C (p.Asn1133His) c.3394A>C (p.Asn1132His) c.1705A>C (p.Asn569His) | |
1 | g.99900718A>G | CA341331303 | AGL | c.3445A>G (p.Asn1149Asp) n.3656A>G c.3397A>G (p.Asn1133Asp) c.3394A>G (p.Asn1132Asp) c.1705A>G (p.Asn569Asp) | |
1 | g.99900718A>T | CA341331304 | AGL | c.3445A>T (p.Asn1149Tyr) n.3656A>T c.3397A>T (p.Asn1133Tyr) c.3394A>T (p.Asn1132Tyr) c.1705A>T (p.Asn569Tyr) | |
1 | g.99900719dup | CA2586967152 | AGL | c.3446dup (p.Asn1149LysfsTer18) n.3657dup c.3398dup (p.Asn1133LysfsTer18) c.3395dup (p.Asn1132LysfsTer18) c.1706dup (p.Asn569LysfsTer18) | |
1 | g.99900719A= | CA1183937268 | AGL | c.3446A= (p.Asn1149=) n.3657A= c.3398A= (p.Asn1133=) c.3395A= (p.Asn1132=) c.1706A= (p.Asn569=) | |
1 | g.99900719A>C | CA341331305 | AGL | c.3446A>C (p.Asn1149Thr) n.3657A>C c.3398A>C (p.Asn1133Thr) c.3395A>C (p.Asn1132Thr) c.1706A>C (p.Asn569Thr) | |
1 | g.99900719A>G | CA341331306 | AGL | c.3446A>G (p.Asn1149Ser) n.3657A>G c.3398A>G (p.Asn1133Ser) c.3395A>G (p.Asn1132Ser) c.1706A>G (p.Asn569Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99900719A>T | CA341331309 | AGL | c.3446A>T (p.Asn1149Ile) n.3657A>T c.3398A>T (p.Asn1133Ile) c.3395A>T (p.Asn1132Ile) c.1706A>T (p.Asn569Ile) | |
1 | g.99900720T>A | CA341331327 | AGL | c.3447T>A (p.Asn1149Lys) n.3658T>A c.3399T>A (p.Asn1133Lys) c.3396T>A (p.Asn1132Lys) c.1707T>A (p.Asn569Lys) | |
1 | g.99900720T>C | CA419314623 | AGL | c.3447T>C (p.Asn1149=) n.3658T>C c.3399T>C (p.Asn1133=) c.3396T>C (p.Asn1132=) c.1707T>C (p.Asn569=) | |
1 | g.99900720T>G | CA341331328 | AGL | c.3447T>G (p.Asn1149Lys) n.3658T>G c.3399T>G (p.Asn1133Lys) c.3396T>G (p.Asn1132Lys) c.1707T>G (p.Asn569Lys) | |
1 | g.99900721T>A | CA341331329 | AGL | c.3448T>A (p.Cys1150Ser) n.3659T>A c.3400T>A (p.Cys1134Ser) c.3397T>A (p.Cys1133Ser) c.1708T>A (p.Cys570Ser) | |
1 | g.99900721T>C | CA341331335 | AGL | c.3448T>C (p.Cys1150Arg) n.3659T>C c.3400T>C (p.Cys1134Arg) c.3397T>C (p.Cys1133Arg) c.1708T>C (p.Cys570Arg) | |
1 | g.99900721T>G | CA341331342 | AGL | c.3448T>G (p.Cys1150Gly) n.3659T>G c.3400T>G (p.Cys1134Gly) c.3397T>G (p.Cys1133Gly) c.1708T>G (p.Cys570Gly) | |
1 | g.99900722G>A | CA341331345 | AGL | c.3449G>A (p.Cys1150Tyr) n.3660G>A c.3401G>A (p.Cys1134Tyr) c.3398G>A (p.Cys1133Tyr) c.1709G>A (p.Cys570Tyr) | |
1 | g.99900722G>C | CA341331346 | AGL | c.3449G>C (p.Cys1150Ser) n.3660G>C c.3401G>C (p.Cys1134Ser) c.3398G>C (p.Cys1133Ser) c.1709G>C (p.Cys570Ser) | |
1 | g.99900722G>T | CA341331347 | AGL | c.3449G>T (p.Cys1150Phe) n.3660G>T c.3401G>T (p.Cys1134Phe) c.3398G>T (p.Cys1133Phe) c.1709G>T (p.Cys570Phe) | |
1 | g.99900723T>A | CA341331349 | AGL | c.3450T>A (p.Cys1150Ter) n.3661T>A c.3402T>A (p.Cys1134Ter) c.3399T>A (p.Cys1133Ter) c.1710T>A (p.Cys570Ter) | ClinVar |
1 | g.99900723T>C | CA419314624 | AGL | c.3450T>C (p.Cys1150=) n.3661T>C c.3402T>C (p.Cys1134=) c.3399T>C (p.Cys1133=) c.1710T>C (p.Cys570=) | |
1 | g.99900723T>G | CA341331350 | AGL | c.3450T>G (p.Cys1150Trp) n.3661T>G c.3402T>G (p.Cys1134Trp) c.3399T>G (p.Cys1133Trp) c.1710T>G (p.Cys570Trp) | |
1 | g.99900724C>A | CA419314625 | AGL | c.3451C>A (p.Arg1151=) n.3662C>A c.3403C>A (p.Arg1135=) c.3400C>A (p.Arg1134=) c.1711C>A (p.Arg571=) | |
1 | g.99900724C= | CA1143753490 | AGL | c.3451C= (p.Arg1151=) n.3662C= c.3403C= (p.Arg1135=) c.3400C= (p.Arg1134=) c.1711C= (p.Arg571=) | |
1 | g.99900724C>G | CA341331362 | AGL | c.3451C>G (p.Arg1151Gly) n.3662C>G c.3403C>G (p.Arg1135Gly) c.3400C>G (p.Arg1134Gly) c.1711C>G (p.Arg571Gly) | |
1 | g.99900724C>T | CA967082 | AGL | c.3451C>T (p.Arg1151Trp) n.3662C>T c.3403C>T (p.Arg1135Trp) c.3400C>T (p.Arg1134Trp) c.1711C>T (p.Arg571Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.99900725G>A | CA967083 | AGL | c.3452G>A (p.Arg1151Gln) n.3663G>A c.3404G>A (p.Arg1135Gln) c.3401G>A (p.Arg1134Gln) c.1712G>A (p.Arg571Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.99900725G>C | CA341331375 | AGL | c.3452G>C (p.Arg1151Pro) n.3663G>C c.3404G>C (p.Arg1135Pro) c.3401G>C (p.Arg1134Pro) c.1712G>C (p.Arg571Pro) | |
1 | g.99900725G= | CA1144101309 | AGL | c.3452G= (p.Arg1151=) n.3663G= c.3404G= (p.Arg1135=) c.3401G= (p.Arg1134=) c.1712G= (p.Arg571=) | |
1 | g.99900725G>T | CA341331376 | AGL | c.3452G>T (p.Arg1151Leu) n.3663G>T c.3404G>T (p.Arg1135Leu) c.3401G>T (p.Arg1134Leu) c.1712G>T (p.Arg571Leu) | |
1 | g.99900726G>A | CA419314626 | AGL | c.3453G>A (p.Arg1151=) n.3664G>A c.3405G>A (p.Arg1135=) c.3402G>A (p.Arg1134=) c.1713G>A (p.Arg571=) | |
1 | g.99900726G>C | CA419314627 | AGL | c.3453G>C (p.Arg1151=) n.3664G>C c.3405G>C (p.Arg1135=) c.3402G>C (p.Arg1134=) c.1713G>C (p.Arg571=) | |
1 | g.99900726G>T | CA419314628 | AGL | c.3453G>T (p.Arg1151=) n.3664G>T c.3405G>T (p.Arg1135=) c.3402G>T (p.Arg1134=) c.1713G>T (p.Arg571=) | |
1 | g.99900727G>A | CA967084 | AGL | c.3454G>A (p.Asp1152Asn) n.3665G>A c.3406G>A (p.Asp1136Asn) c.3403G>A (p.Asp1135Asn) c.1714G>A (p.Asp572Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99900727G>C | CA341331384 | AGL | c.3454G>C (p.Asp1152His) n.3665G>C c.3406G>C (p.Asp1136His) c.3403G>C (p.Asp1135His) c.1714G>C (p.Asp572His) | |
1 | g.99900727G= | CA1143467032 | AGL | c.3454G= (p.Asp1152=) n.3665G= c.3406G= (p.Asp1136=) c.3403G= (p.Asp1135=) c.1714G= (p.Asp572=) | |
1 | g.99900727G>T | CA341331388 | AGL | c.3454G>T (p.Asp1152Tyr) n.3665G>T c.3406G>T (p.Asp1136Tyr) c.3403G>T (p.Asp1135Tyr) c.1714G>T (p.Asp572Tyr) | gnomAD v4 |
1 | g.99900728A>C | CA341331394 | AGL | c.3455A>C (p.Asp1152Ala) n.3666A>C c.3407A>C (p.Asp1136Ala) c.3404A>C (p.Asp1135Ala) c.1715A>C (p.Asp572Ala) | |
1 | g.99900728A>G | CA341331396 | AGL | c.3455A>G (p.Asp1152Gly) n.3666A>G c.3407A>G (p.Asp1136Gly) c.3404A>G (p.Asp1135Gly) c.1715A>G (p.Asp572Gly) | |
1 | g.99900728A>T | CA341331397 | AGL | c.3455A>T (p.Asp1152Val) n.3666A>T c.3407A>T (p.Asp1136Val) c.3404A>T (p.Asp1135Val) c.1715A>T (p.Asp572Val) | gnomAD v4 |
1 | g.99900729T>A | CA341331398 | AGL | c.3456T>A (p.Asp1152Glu) n.3667T>A c.3408T>A (p.Asp1136Glu) c.3405T>A (p.Asp1135Glu) c.1716T>A (p.Asp572Glu) | |
1 | g.99900729T>C | CA419314629 | AGL | c.3456T>C (p.Asp1152=) n.3667T>C c.3408T>C (p.Asp1136=) c.3405T>C (p.Asp1135=) c.1716T>C (p.Asp572=) | |
1 | g.99900729T>G | CA341331399 | AGL | c.3456T>G (p.Asp1152Glu) n.3667T>G c.3408T>G (p.Asp1136Glu) c.3405T>G (p.Asp1135Glu) c.1716T>G (p.Asp572Glu) | |
1 | g.99900730G>A | CA27539402 | AGL | c.3457G>A (p.Ala1153Thr) n.3668G>A c.3409G>A (p.Ala1137Thr) c.3406G>A (p.Ala1136Thr) c.1717G>A (p.Ala573Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.99900730G>C | CA341331402 | AGL | c.3457G>C (p.Ala1153Pro) n.3668G>C c.3409G>C (p.Ala1137Pro) c.3406G>C (p.Ala1136Pro) c.1717G>C (p.Ala573Pro) | |
1 | g.99900730G= | CA1183937269 | AGL | c.3457G= (p.Ala1153=) n.3668G= c.3409G= (p.Ala1137=) c.3406G= (p.Ala1136=) c.1717G= (p.Ala573=) | |
1 | g.99900730G>T | CA341331401 | AGL | c.3457G>T (p.Ala1153Ser) n.3668G>T c.3409G>T (p.Ala1137Ser) c.3406G>T (p.Ala1136Ser) c.1717G>T (p.Ala573Ser) | gnomAD v4 |
1 | g.99900731del | CA2573132749 | AGL | c.3458del (p.Ala1153ValfsTer20) n.3669del c.3410del (p.Ala1137ValfsTer20) c.3407del (p.Ala1136ValfsTer20) c.1718del (p.Ala573ValfsTer20) | ClinVar dbSNP |
1 | g.99900731C>A | CA341331415 | AGL | c.3458C>A (p.Ala1153Asp) n.3669C>A c.3410C>A (p.Ala1137Asp) c.3407C>A (p.Ala1136Asp) c.1718C>A (p.Ala573Asp) | |
1 | g.99900731C>G | CA341331424 | AGL | c.3458C>G (p.Ala1153Gly) n.3669C>G c.3410C>G (p.Ala1137Gly) c.3407C>G (p.Ala1136Gly) c.1718C>G (p.Ala573Gly) | |
1 | g.99900731C>T | CA341331425 | AGL | c.3458C>T (p.Ala1153Val) n.3669C>T c.3410C>T (p.Ala1137Val) c.3407C>T (p.Ala1136Val) c.1718C>T (p.Ala573Val) | |
1 | g.99900732T>A | CA419314631 | AGL | c.3459T>A (p.Ala1153=) n.3670T>A c.3411T>A (p.Ala1137=) c.3408T>A (p.Ala1136=) c.1719T>A (p.Ala573=) | |
1 | g.99900732T>C | CA419314632 | AGL | c.3459T>C (p.Ala1153=) n.3670T>C c.3411T>C (p.Ala1137=) c.3408T>C (p.Ala1136=) c.1719T>C (p.Ala573=) | ClinVar gnomAD v4 |
1 | g.99900732T>G | CA419314633 | AGL | c.3459T>G (p.Ala1153=) n.3670T>G c.3411T>G (p.Ala1137=) c.3408T>G (p.Ala1136=) c.1719T>G (p.Ala573=) | |
1 | g.99900733G>A | CA341331432 | AGL | c.3460G>A (p.Val1154Met) n.3671G>A c.3412G>A (p.Val1138Met) c.3409G>A (p.Val1137Met) c.1720G>A (p.Val574Met) | |
1 | g.99900733G>C | CA341331440 | AGL | c.3460G>C (p.Val1154Leu) n.3671G>C c.3412G>C (p.Val1138Leu) c.3409G>C (p.Val1137Leu) c.1720G>C (p.Val574Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99900733G= | CA1183937270 | AGL | c.3460G= (p.Val1154=) n.3671G= c.3412G= (p.Val1138=) c.3409G= (p.Val1137=) c.1720G= (p.Val574=) | |
1 | g.99900733G>T | CA341331442 | AGL | c.3460G>T (p.Val1154Leu) n.3671G>T c.3412G>T (p.Val1138Leu) c.3409G>T (p.Val1137Leu) c.1720G>T (p.Val574Leu) | |
1 | g.99900734T>A | CA27539414 | AGL | c.3461T>A (p.Val1154Glu) n.3672T>A c.3413T>A (p.Val1138Glu) c.3410T>A (p.Val1137Glu) c.1721T>A (p.Val574Glu) | dbSNP gnomAD v4 |
1 | g.99900734T>C | CA341331443 | AGL | c.3461T>C (p.Val1154Ala) n.3672T>C c.3413T>C (p.Val1138Ala) c.3410T>C (p.Val1137Ala) c.1721T>C (p.Val574Ala) | |
1 | g.99900734T>G | CA341331444 | AGL | c.3461T>G (p.Val1154Gly) n.3672T>G c.3413T>G (p.Val1138Gly) c.3410T>G (p.Val1137Gly) c.1721T>G (p.Val574Gly) | dbSNP |
1 | g.99900734T= | CA1183937271 | AGL | c.3461T= (p.Val1154=) n.3672T= c.3413T= (p.Val1138=) c.3410T= (p.Val1137=) c.1721T= (p.Val574=) | |
1 | g.99900734_99900735insCGAAGAAGAGCGACA | CA2556073368 | AGL | c.3461_3462insCGAAGAAGAGCGACA (p.Val1154_Trp1155insGluGluGluArgGln) n.3672_3673insCGAAGAAGAGCGACA c.3413_3414insCGAAGAAGAGCGACA (p.Val1138_Trp1139insGluGluGluArgGln) c.3410_3411insCGAAGAAGAGCGACA (p.Val1137_Trp1138insGluGluGluArgGln) c.1721_1722insCGAAGAAGAGCGACA (p.Val574_Trp575insGluGluGluArgGln) | |
1 | g.99900735G>A | CA419314634 | AGL | c.3462G>A (p.Val1154=) n.3673G>A c.3414G>A (p.Val1138=) c.3411G>A (p.Val1137=) c.1722G>A (p.Val574=) | |
1 | g.99900735G>C | CA419314635 | AGL | c.3462G>C (p.Val1154=) n.3673G>C c.3414G>C (p.Val1138=) c.3411G>C (p.Val1137=) c.1722G>C (p.Val574=) | |
1 | g.99900735G>T | CA419314636 | AGL | c.3462G>T (p.Val1154=) n.3673G>T c.3414G>T (p.Val1138=) c.3411G>T (p.Val1137=) c.1722G>T (p.Val574=) | |
1 | g.99900736T>A | CA341331453 | AGL | c.3463T>A (p.Trp1155Arg) n.3674T>A c.3415T>A (p.Trp1139Arg) c.3412T>A (p.Trp1138Arg) c.1723T>A (p.Trp575Arg) | |
1 | g.99900736T>C | CA341331463 | AGL | c.3463T>C (p.Trp1155Arg) n.3674T>C c.3415T>C (p.Trp1139Arg) c.3412T>C (p.Trp1138Arg) c.1723T>C (p.Trp575Arg) | |
1 | g.99900736T>G | CA341331464 | AGL | c.3463T>G (p.Trp1155Gly) n.3674T>G c.3415T>G (p.Trp1139Gly) c.3412T>G (p.Trp1138Gly) c.1723T>G (p.Trp575Gly) | |
1 | g.99900736_99900737insAGAAAGTTCGAGC | CA2540134325 | AGL | c.3463_3464insAGAAAGTTCGAGC (p.Trp1155Ter) n.3674_3675insAGAAAGTTCGAGC c.3415_3416insAGAAAGTTCGAGC (p.Trp1139Ter) c.3412_3413insAGAAAGTTCGAGC (p.Trp1138Ter) c.1723_1724insAGAAAGTTCGAGC (p.Trp575Ter) | |
1 | g.99900737G>A | CA341331496 | AGL | c.3464G>A (p.Trp1155Ter) n.3675G>A c.3416G>A (p.Trp1139Ter) c.3413G>A (p.Trp1138Ter) c.1724G>A (p.Trp575Ter) | COSMIC |
1 | g.99900737G>C | CA341331492 | AGL | c.3464G>C (p.Trp1155Ser) n.3675G>C c.3416G>C (p.Trp1139Ser) c.3413G>C (p.Trp1138Ser) c.1724G>C (p.Trp575Ser) | |
1 | g.99900737G>T | CA341331480 | AGL | c.3464G>T (p.Trp1155Leu) n.3675G>T c.3416G>T (p.Trp1139Leu) c.3413G>T (p.Trp1138Leu) c.1724G>T (p.Trp575Leu) | |
1 | g.99900738G>A | CA341331502 | AGL | c.3465G>A (p.Trp1155Ter) n.3676G>A c.3417G>A (p.Trp1139Ter) c.3414G>A (p.Trp1138Ter) c.1725G>A (p.Trp575Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.99900738G>C | CA341331511 | AGL | c.3465G>C (p.Trp1155Cys) n.3676G>C c.3417G>C (p.Trp1139Cys) c.3414G>C (p.Trp1138Cys) c.1725G>C (p.Trp575Cys) | |
1 | g.99900738G= | CA1183937272 | AGL | c.3465G= (p.Trp1155=) n.3676G= c.3417G= (p.Trp1139=) c.3414G= (p.Trp1138=) c.1725G= (p.Trp575=) | |
1 | g.99900738G>T | CA967085 | AGL | c.3465G>T (p.Trp1155Cys) n.3676G>T c.3417G>T (p.Trp1139Cys) c.3414G>T (p.Trp1138Cys) c.1725G>T (p.Trp575Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |